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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
J Allergy Clin Immunol. 2017 Jan;139(1):232-245. doi: 10.1016/j.jaci.2016.05.042. Epub 2016 Jul 16.
J Allergy Clin Immunol. 2017.
PMID: 27577878
Free PMC article.
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles.
Coban-Akdemir Z, White JJ, Song X, Jhangiani SN, Fatih JM, Gambin T, Bayram Y, Chinn IK, Karaca E, Punetha J, Poli C; Baylor-Hopkins Center for Mendelian Genomics; Boerwinkle E, Shaw CA, Orange JS, Gibbs RA, Lappalainen T, Lupski JR, Carvalho CMB.
Coban-Akdemir Z, et al.
Am J Hum Genet. 2018 Aug 2;103(2):171-187. doi: 10.1016/j.ajhg.2018.06.009. Epub 2018 Jul 19.
Am J Hum Genet. 2018.
PMID: 30032986
Free PMC article.
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Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, Gibbs RA, Lifton RP, MacArthur DG, Matise TC, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Mane S, Nickerson DA; Centers for Mendelian Genomics Consortium; Rehm HL, O'Donnell-Luria A.
Baxter SM, et al.
Genet Med. 2022 Apr;24(4):784-797. doi: 10.1016/j.gim.2021.12.005. Epub 2022 Feb 9.
Genet Med. 2022.
PMID: 35148959
Free PMC article.
Review.
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Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
Saettini F, Poli C, Vengoechea J, Bonanomi S, Orellana JC, Fazio G, Rodriguez FH, Noguera LP, Booth C, Jarur-Chamy V, Shams M, Iascone M, Vukic M, Gasperini S, Quadri M, Barroeta Seijas A, Rivers E, Mauri M, Badolato R, Cazzaniga G, Bugarin C, Gaipa G, Kroes WGM, Moratto D, van Oostaijen-Ten Dam MM, Baas F, van der Maarel S, Piazza R, Coban-Akdemir ZH, Lupski JR, Yuan B, Chinn IK, Daxinger L, Biondi A.
Saettini F, et al.
Blood. 2021 Jan 28;137(4):493-499. doi: 10.1182/blood.2020006441.
Blood. 2021.
PMID: 32905580
Free PMC article.
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IL-2 in the tumor microenvironment is necessary for Wiskott-Aldrich syndrome protein deficient NK cells to respond to tumors in vivo.
Kritikou JS, Dahlberg CI, Baptista MA, Wagner AK, Banerjee PP, Gwalani LA, Poli C, Panda SK, Kärre K, Kaech SM, Wermeling F, Andersson J, Orange JS, Brauner H, Westerberg LS.
Kritikou JS, et al.
Sci Rep. 2016 Aug 1;6:30636. doi: 10.1038/srep30636.
Sci Rep. 2016.
PMID: 27477778
Free PMC article.
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Antiproliferative activity of various flavonoids and related compounds: additive effect of interferon-alpha2b.
Blank VC, Poli C, Marder M, Roguin LP.
Blank VC, et al.
Bioorg Med Chem Lett. 2004 Jan 5;14(1):133-6. doi: 10.1016/j.bmcl.2003.10.029.
Bioorg Med Chem Lett. 2004.
PMID: 14684314
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